A clinico-genealogical study of a family with juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is idiopathic generalized epilepsy of teenagers characterized by massive myoclonic fits. It is supposed to be of hereditary nature with location of the gene on the short arm of the 6th chromosome. A family is described where two sibs suffered from JME attacks while their uncle had isolated generalized convulsive seizures. The autosomal recessive pattern of JME inheritance was suggested. JME gene may be linked to the genes which determine photosensitivity and fast generalized spike or polyspike EEG activity. High frequency of neuroendocrine disturbances in JME patients is emphasized.